From 1824691f9912b3a66cc41412ac03ba3963c460ed Mon Sep 17 00:00:00 2001 From: "github-actions[bot]" <41898282+github-actions[bot]@users.noreply.github.com> Date: Mon, 6 Jan 2025 14:22:20 -0800 Subject: [PATCH] Update Mondo diff reports (#8537) Co-authored-by: matentzn --- .../mondo_base_current_release-report.tsv | 108 ++++++++++++++++-- .../reports/mondo_obsoletioncandidates.tsv | 3 +- .../mondo_release_diff_changed_terms.tsv | 8 ++ .../reports/mondo_release_diff_new_terms.tsv | 90 +++++++++++++++ 4 files changed, 199 insertions(+), 10 deletions(-) diff --git a/src/ontology/reports/mondo_base_current_release-report.tsv b/src/ontology/reports/mondo_base_current_release-report.tsv index 37e9decaba..4d9ee5a4d1 100644 --- a/src/ontology/reports/mondo_base_current_release-report.tsv +++ b/src/ontology/reports/mondo_base_current_release-report.tsv @@ -8562,7 +8562,7 @@ "choreoathetosis, familial inverted" "" "obsolete paroxysmal nonkinesigenic dyskinesia 1" "" "true" "chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase" "" - "familial chylomicronemia syndrome" "" + "familial chylomicronemia syndrome" "A rare autosomal recessive disease characterized by the buildup in the blood of fat particles called chylomicrons (chylomicronemia), severe hypertriglyceridemia, and the risk of recurrent and potentially fatal pancreatitis and other complications. It is caused by mutations in the gene encoding LPL or, less frequently, by mutations in genes encoding other proteins necessary for LPL function." "" "choroidal osteoma, bilateral" "" "congenital pseudoarthrosis of clavicle" "Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle." "" "obsolete cleft chin" "" "true" @@ -24772,7 +24772,7 @@ "disorder of glutamate decarboxylase" "A disease that has its basis in the disruption of glutamate decarboxylase activity." "" "meningococcemia" "" "parainfluenza infectious disease" "A disease caused by infection with parainfluenza virus. There are four serotypes which cause respiratory illnesses in children and adults." "" - "pseudoachondroplastic dysplasia 2" "" + "pseudoachondroplastic dysplasia 2" "True" "trichoepithelioma, multiple familial, 1" "" "" "true" "hypokalemic periodic paralysis, type 1" "" @@ -25112,7 +25112,7 @@ "X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome" "" "cochleovestibular dysplasia" "" "mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome" "" - "metopic ridging-ptosis-facial dysmorphism syndrome" "True" + "obsolete metopic ridging-ptosis-facial dysmorphism syndrome" "" "true" "obsolete STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome" "" "true" "4q25 proximal deletion syndrome" "" "alkaline ceramidase 3 deficiency" "" @@ -26433,7 +26433,7 @@ "mesomelic dysplasia-digital anomalies-intellectual disability syndrome" "" "KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome" "" "SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome" "" - "CPE-related Prader-Willi-like syndrome" "" + "CPE-related Prader-Willi-like syndrome" "True" "intellectual disability-early-onset cataract-microcephaly syndrome" "" "PAICS deficiency" "" "invasive scopulariopsis infection" "" @@ -27260,7 +27260,7 @@ "pythiosis" "A granulomatous disease caused by the aquatic organism pythium insidiosum occurring rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial." "" "epilepsy, non-human animal" "Epilepsy that occurs in non-human animals." "" "myoclonus, non-human animal" "Myoclonus that occurs in non-human animals." "" - "metabolic disease, non-human animal" "Metabolic disease that occurs in non-human animals." "" + "inborn errors of metabolism, non-human animal" "Inborn errors of metabolism that occur in non-human animals." "" "narcolepsy, non-human animal" "Narcolepsy that occurs in non-human animals." "" "paroxysmal dyskinesia, non-human animal" "Paroxysmal dyskinesia that occurs in non-human animals." "" "autism spectrum disorder, non-human animal" "Autism spectrum disorder that occurs in non-human animals." "" @@ -27270,6 +27270,7 @@ "syndromic disease, non-human animal" "Syndromic disease that occurs in non-human animals." "" "subvalvular aortic stenosis, non-human animal" "Subvalvular aortic stenosis that occurs in non-human animals." "" "disorder of development or morphogenesis, non-human animal" "Disorder of development or morphogenesis that occurs in non-human animals." "" + "heart disorder, non-human animal" "Heart disorder that occurs in non-human animals." "" "atherosclerosis, non-human animal" "Atherosclerosis that occurs in non-human animals." "" "atrial septal defect, non-human animal" "Atrial septal defect that occurs in non-human animals." "" "cardiomyopathy, non-human animal" "Cardiomyopathy that occurs in non-human animals." "" @@ -27322,6 +27323,7 @@ "diabetes insipidus, non-human animal" "Diabetes insipidus that occurs in non-human animals." "" "renal disease, non-human animal" "" "diabetes mellitus, non-human animal" "Diabetes mellitus that occurs in non-human animals." "" + "metabolic disease, non-human animal" "Metabolic disease that occurs in non-human animals." "" "familial goiter, non-human animal" "Familial goiter that occurs in non-human animals." "" "congenital hypothyroidism, non-human animal" "Congenital hypothyroidism that occurs in non-human animals." "" "hyperparathyroidism, non-human animal" "Hyperparathyroidism that occurs in non-human animals." "" @@ -27370,6 +27372,7 @@ "analphalipoproteinaemia, non-human animal" "Analphalipoproteinaemia that occurs in non-human animals." "" "citrullinemia, non-human animal" "Citrullinemia that occurs in non-human animals." "" "pyruvate kinase deficiency of erythrocyte, non-human animal" "Pyruvate kinase deficiency of erythrocyte that occurs in non-human animals." "" + "anemia, non-human animal" "Anemia that occurs in non-human animals." "" "galactosemia, non-human animal" "Galactosemia that occurs in non-human animals." "" "disorder of orbital region, non-human animal" "Disorder of orbital region that occurs in non-human animals." "" "disorder of visual system, non-human animal" "Disorder of visual system that occurs in non-human animals." "" @@ -27925,6 +27928,7 @@ "hypohidrotic ectodermal dysplasia, non-human animal" "Hypohidrotic ectodermal dysplasia that occurs in non-human animals." "" "X-linked hypohidrotic ectodermal dysplasia, EDA-related, cattle" "Hereditary sparse hair and dental aplasia in cattle associated with a variation in the EDA gene." "" "ichthyosis TGM1-related, dog" "Hereditary severe hyperkeratosis in dogs due to a variation in the TGM1 gene." "" + "ichthyosis, dog" "Ichthyosis that occurs in dogs." "" "acrodermatitis enteropathica, dog" "Acrodermatitis enteropathica that occurs in dog." "" "acrodermatitis enteropathica, domestic cat" "Acrodermatitis enteropathica that occurs in domestic cat." "" "acrodermatitis enteropathica, cattle" "Acrodermatitis enteropathica that occurs in cattle." "" @@ -28722,7 +28726,7 @@ "spina bifida with myelomeningocele, non-human animal" "" "spina bifida with raduschisis, non-human animal" "" "spinal dysraphism, non-human animal" "" - "hydrallantois, non-human animal" "" + "hydrallantois, non-human animal" "A gestational disease affecting pregnant animals characterized by excessive accumulation of fluid within the allantoic cavity and associated with fetal and placental abnormalities and fetal mortality." "" "spontaneous autoimmune thyroiditis, non-human animal" "" "hyperosmolar nonketotic diabetes mellitus, non-human animal" "" "hypoadrenocorticism, non-human animal" "" @@ -28970,7 +28974,7 @@ "primary ciliary dyskinesia, non-human animal" "" "shivers, non-human animal" "" "pulmonary adenomatosis, non-human animal" "" - "laryngeal paralysis, non-human animal" "" + "laryngeal paralysis, non-human animal" "A respiratory disorder characterized by an inability to abduct the arytenoid cartilages during inspiration resulting in a partial to complete airway obstruction and consequent respiratory distress." "" "guttural pouch tympany, non-human animal" "" "recurrent airway obstruction, non-human animal" "" "upper airway syndrome, non-human animal" "" @@ -29608,6 +29612,9 @@ "ametapodia-1, chicken" "Any ametopodia that occurs in chickens with dominant inheritance." "" "arachnomelia syndrome, SUOX-related, cattle" "Any arachnomelia syndrome that occurs in cattle due to a mutation in the SUOX gene." "" "arachnomelia syndrome, non-human animal" "A hereditary malformation of the skeletal system in non-human animals." "" + "neonatal cerebellar ataxia, GRM1-related, dog" "Any cerebellar ataxia that occurs dogs due to a mutation in the GRM1 gene." "" + "cerebellar ataxia, dog" "Cerebellar ataxia that occurs in dogs." "" + "hereditary cerebellar ataxia, non-human animal" "Herediatary cerebellar ataxia that occurs in non-human animals." "" "oculocutaneous albinism, TYR-related, Japanese ratsnake" "Oculocutaneous albinism that occurs in Japanese ratsnake due to a mutation in the TYR gene." "" "oculocutaneous albinism, TYR-related, American mink" "Oculocutaneous albinism that occurs in American mink due to a mutation in the TYR gene." "" "oculocutaneous albinism, TYR-related, Japanese raccoon dog" "Oculocutaneous albinism that occurs in Japanese raccoon dog due to a mutation in the TYR gene." "" @@ -29629,10 +29636,36 @@ "GM2 gangliosidosis, dog" "A lysosomal storage disease that occurs in dogs in which there is a buildup of GM2 gangliosides in tissues due to the lack of the enzyme hexosaminidase. It is characterised by progressive neuromuscular dysfunction and impaired growth from an early age." "" "GM2 gangliosidosis, domestic cat" "A lysosomal storage disease that occurs in cats in which there is a buildup of GM2 gangliosides in tissues due to the lack of the enzyme hexosaminidase. It is characterised by progressive neuromuscular dysfunction and impaired growth from an early age." "" "GM2 gangliosidosis, pig" "A lysosomal storage disease that occurs in pigs in which there is a buildup of GM2 gangliosides in tissues due to the lack of the enzyme hexosaminidase. It is characterised by progressive neuromuscular dysfunction and impaired growth from an early age." "" + "glycogen storage disease IV, dog" "Any glycogen storage disease that occurs in dogs due to a glycogen branching enzyme (GBE) deficiency." "" + "glycogen storage disease IV, domestic cat" "Any glycogen storage disease that occurs in cats due to a mutation in the GBE1 gene." "" + "glycogen storage disease IV, horse" "Any glycogen storage disease that occurs in horses due to a mutation in the GBE1 gene." "" + "fasting unconjugated hyperbilirubinemia, Bolivian squirrel monkey" "Any unconjugated hyperbilirubinemia due to an increase in the bilirubin turnover/production rate and/or decreased hepatic conjugation during fasting that occurs in Bolivian squirrel monkey." "" + "hyperbilirubinemia, non-human animal" "Hyperbilirubinemia that occurs in non-human animals." "" + "unconjugated hyperbilirubinemia, horse" "Unconjugated hyperbilirubinemia that occurs in horses." "" + "conjugated hyperbilirubinemia, sheep" "A liver disorder characterized by chronic conjugated hyperbilirubinemia and gross dark brown to black discoloration of the liver that occurs in sheep." "" + "conjugated hyperbilirubinemia, golden lion tamarin" "A liver disorder characterized by chronic conjugated hyperbilirubinemia and abundant intrahepatic pigment in a centrilobular and midzonal distribution that occurs in golden lion tamarins." "" + "intestinal cobalamin (vitamin B12) malabsorption, AMN-related, dog" "Intestinal cobalamin (vitamin B12) malabsorption that occurs in dogs due to a mutation in the AMN gene." "" + "membranoproliferative glomerulonephritis, CFH-related, pig" "Form of glomerulonephritis that occurs in pigs, is characterized by glomerular hypercellularity and thickening of the glomerular capillary walls and glomerular basement membrane due to large amounts of dense deposits, and is caused by an absence of omplement regulator factor H." "" + "mesangiocapillary glomerulonephritis, type I, sheep" "A form of glomerulonephritis that occurs in sheep and is characterized by thickening of glomerular capillary basement membranes, proliferation of mesangial cells, and peri-glomerular fibrosis and associated with C3 deficiency." "" + "microphthalmia-4, chicken" "Inherited microphthalmia that occurs in female chickens." "" + "mucopolysaccharidosis I, dog" "Any lysosomal storage disorder that occurs in dogs due to a mutation in the IDUA gene." "" + "mucopolysaccharidosis I, domestic cat" "Any lysosomal storage disorder that occurs in cats due to a mutation in the IDUA gene." "" "congenital myasthenic syndrome, CHRNE-related, dog" "Inherited disorder of neuromuscular transmission resulting in muscle weakness and fatigability exacerbated by exercise that occurs in dogs due to a mutation in the CHRNE gene." "" "congenital myasthenic syndrome, CHRNE-related, cattle" "Inherited disorder of neuromuscular transmission resulting in progressive muscle weakness and mortality that occurs in young calves due to a mutation in the CHRNE gene." "" + "nephritis, COL4A5-related, dog" "Nephritis that occurs in male dogs due to a mutation in the COL4A5 gene." "" + "autosomal dominant nephritis, dog" "Autosomal dominant form of nephritis that occurs in dogs." "" + "mucolipidosis, GNPTAB-related, domestic cat" "Mucolipidosis that occurs in cats due to a mutation in the GNPTAB gene." "" + "mucolipidosis, non-human animal" "Mucolipidosis that occurs in non-human animals." "" "dwarfism, ACAN-related, horse" "Any dwarfism that occurs in horses due to a mutation in the ACAN gene." "" "dwarfism, ACAN-related, cattle" "Any dwarfism that occurs in cattle due to a mutation in the ACAN gene." "" + "mucopolysaccharidosis II, Kaka" "Any lysosomal storage disorder characterized by deficient iduronate-2-sulfatase (IDS) activity that occurs in kakas." "" + "mucopolysaccharidosis II, dog" "Any lysosomal storage disorder characterized by deficient iduronate-2-sulfatase (IDS) activity that occurs in dogs." "" + "hereditary footpad hyperkeratosis, FAM83G-related, dog" "An orthokeratotic palmoplantar hyperkeratosis leading to thickened and hardened footpads that occurs in dogs starting at an age of 18 to 24 weeks of age due to a mutation in the FAM83G gene." "" + "hyperkeratosis, non-human animal" "Hyperkeratosis that occurs in non-human animals." "" + "mucopolysaccharidosis IIIB, emu" "Any lysosomal storage disorder that occurs in emu due to a mutation in the NAGLU gene." "" + "mucopolysaccharidosis IIIB, dog" "Any lysosomal storage disorder that occurs in dogs due to a mutation in the NAGLU gene." "" + "mucopolysaccharidosis IIIB, pig" "Any lysosomal storage disorder that occurs in pigs due to a mutation in the NAGLU gene created by genetic engineering or gene editing." "" + "mucopolysaccharidosis IIIB, cattle" "Any lysosomal storage disorder that occurs in cattle due to a mutation in the NAGLU gene." "" "centronuclear myopathy, HACD1-related, dog" "Any centronuclear myopathy that occurs in dogs due to a mutation in the HACD1 gene." "" "osteochondrodysplasia, SLC13A1-related, dog" "Hereditary osteochondrodysplasia that occurs in dogs due to a mutation in the SLC13A1 gene." "" "chondrodysplasia, SLC13A1-related, sheep" "Hereditary chondrodysplasia that occurs in sheep due to a mutation in the SLC13A1 gene." "" @@ -29644,17 +29677,29 @@ "GM2 gangliosidosis, Muntjak deer" "A lysosomal storage disease that occurs in Muntjak deer in which there is a buildup of GM2 gangliosides in tissues due to the lack of the enzyme β-hexosaminidase A. It is characterised by depression, ataxia, circling and visual deficits from an early age." "" "GM2 gangliosidosis, HEXA-related, sheep" "A lysosomal storage disease that occurs in sheep due to a mutation in the HEXA gene." "" "GM2 gangliosidosis, rabbit" "A lysosomal storage disease that occurs in rabbits in which there is a buildup of GM2 gangliosides in the brain due to the lack of the enzyme β-hexosaminidase A. It is characterised by rapidly progression of neurological signs." "" + "canine multiple system degeneration, SERAC1-related, dog" "A progressive hereditary neurodegenerative disorder that occurs in dogs and is characterized by neuronal degeneration and loss in the cerebellum, olivary nuclei, substantia nigra, and caudate nuclei due to a mutation in the SERAC1 gene." "" + "melanoma-bearing Libechov minipig, pig" "Hereditary melanoma that occurs in melanoma-bearing Libechov minipipgs due to selective breeding for the purpose of creating a swine model of hereditary metastatic melanoma." "" "dwarfism, PRKG2-related, dog" "Any dwarfism that occurs in dogs due to a mutation in the PRKG2 gene." "" "dwarfism, PRKG2-related, cattle" "Any dwarfism that occurs in cattle due to a mutation in the PRKG2 gene." "" + "lysosomal storage disease, ARSG related, dog" "Any lysosomal storage disease that occurs in dogs due to a mutation in the ARSG gene." "" "geleophysic dysplasia, ADMATSL2-related, dog" "A hereditary connective tissue disorder characterized by extensive fibrosis of the skin and joints that occurs in dogs due to a mutation in the ADAMTSL2 gene." "" "arachnomelia syndrome, MOCS1-related, cattle" "Any arachnomelia syndrome that occurs in cattle due to a mutation in the MOCS1 gene." "" + "immunodeficiency syndrome, SLC5A3-related, horse" "Immunodeficiency characterized by B-lymphocyte lymphopenia and progressive anemia that occurs in horses due to a mutation in the SLC5A3 gene." "" + "ichthyosis, PNPLA1-related, dog" "Ichthyosis that occurs in dogs due to a mutation in the PNPLA1 gene." "" "benign familial juvenile epilepsy, LGI2-related, dog" "Any epilepsy that occurs in dogs due to a mutation in the LGI2 gene." "" + "muscular dystrophy with reduced β-sarcoglycan, domestic cat" "Any muscular dystrophy associated with β-sarcoglycan deficiency that occurs in cats." "" "ametapodia-2, chicken" "Any ametopodia that occurs in chickens with recessive inheritance." "" "centronuclear myopathy 2, BIN1-related, dog" "Any centronuclear myopathy that occurs in dogs due to a mutation in the BIN1 gene." "" + "junctional epidermolysis bullosa, LAMA3-related, dog" "Junctional epidermolysis bullosa that occurs in dogs due to a mutation in the LAMA3 gene." "" + "junctional epidermolysis bullosa, LAMA3-related, horse" "Junctional epidermolysis bullosa that occurs in horses due to a mutation in the LAMA3 gene." "" + "junctional epidermolysis bullosa, LAMA3-related, cattle" "Junctional epidermolysis bullosa that occurs in cattle due to a mutation in the LAMA3 gene." "" + "junctional epidermolysis bullosa, LAMC2-related, horse" "Junctional epidermolysis bullosa that occurs in horses due to a mutation in the LAMC2 gene." "" + "junctional epidermolysis bullosa, LAMC2-related, cattle" "Junctional epidermolysis bullosa that occurs in cattle due to a mutation in the LAMC2 gene." "" + "junctional epidermolysis bullosa, LAMC2-related, sheep" "Junctional epidermolysis bullosa that occurs in sheep due to a mutation in the LAMC2 gene." "" + "hemifacial microsomia, domestic cat" "Any congenital malformation syndrome presenting with unilateral craniofacial abnormalities that occurs in cats." "" "progressive early-onset cerebellar ataxia, SEL1L-related, dog" "Any cerebellar ataxia that occurs in dogs due to a mutation in the SEL1L gene." "" - "cerebellar ataxia, dog" "Cerebellar ataxia that occurs in dogs." "" - "hereditary cerebellar ataxia, non-human animal" "Herediatary cerebellar ataxia that occurs in non-human animals." "" "Ehlers-Danlos syndrome with absence of dermatan sulfate proteoglycan, cattle" "Any Ehlers-Danlos syndrome that occurs in cattle with absence of dermatan sulfate proteoglycan." "" + "intestinal cobalamin (vitamin B12) malabsorption, CUBN-related, dog" "Intestinal cobalamin (vitamin B12) malabsorption that occurs in dogs due to a mutation in the CUBN gene." "" "hereditary chondrodysplasia, dog" "Any hereditary chondrodysplaisa that occurs in dogs characterized by short limbs and radius curvus deformity." "" "Chiari-like malformation, dog" "Any Chiari malformation that occurs in dogs." "" "primary open angle glaucoma, ADAMTS10-related, dog" "Any primary open angle glaucoma that occurs in dogs due to a mutation in the ADAMTS10 gene." "" @@ -29669,6 +29714,8 @@ "cataract, NID1-related, cattle" "Any cataract that occurs in cattle due to a mutation in the NID1 gene." "" "congenital liver fibrosis, PKHD1-related, horse" "A developmental disorder of the biliary system caused by a congenital defect in the remodeling of the ductal plate at the level of the interlobular ducts, resulting in persistence of excessive abnormal embryonic bile duct structures, irregular portal veins, and progressive fibrosis of the portal tracts that occurs in horses due to a mutation in the PKHD1 gene." "" "cerebellar hypoplasia, VLDLR-associated, dog" "Any cerebellar ataxia that occurs in dogs due to a mutation in the VLDLR gene." "" + "junctional epidermolysis bullosa, ITGB4-related, cattle" "Junctional epidermolysis bullosa that occurs in cattle due to a mutation in the ITGB4 gene." "" + "junctional epidermolysis bullosa, ITGB4-related, sheep" "Junctional epidermolysis bullosa that occurs in sheep due to a mutation in the ITGB4 gene." "" "cholesterol deficiency, APOB-related, cattle" "Low plasma cholesterol concentration that occurs in cattle due to a mutation in the APOB gene mutation. The “cholesterol deficiency” is a consequence of a decreased ability to be incorporated into lipoproteins for transport in circulation." "" "primary open angle glaucoma, ADAMTS17-related, dog" "Any primary open angle glaucoma that occurs in dogs due to a mutation in the ADAMTS17 gene." "" "dwarfism, GON4L-related, cattle" "Any dwarfism that occurs in cattle due to a mutation in the GON4L gene." "" @@ -29679,6 +29726,7 @@ "cystinuria, SLC7A9-related, domestic cat" "Any cystinuria that occurs in cats due to a mutation in the SLC7A9 gene." "" "cerebellar cortical degeneration, SNX14-related, dog" "Progressive cerebellar ataxia that occurs in dogs due to a mutation in the SNX14 gene." "" "cancer, RUNX-related, pig" "Any cancer that occurs in pigs due to a mutation in the RUNX gene created by genetic engineering or gene editing." "" + "atherosclerosis, APOE-related, rabbit" "Atherosclerosis that occurs in rabbits due to a mutation in the APOE gene created by genetic engineering or gene editing." "" "dwarfism, B4GALT7-related, horse" "Any dwarfism that occurs in horses due to a mutation in the B4GALT7 gene." "" "epidermolysis bullosa simplex, PLEC-related, dog" "Any epidermolysis bullosa simplex that occurs in dogs due to a mutation in the PLEC gene." "" "epidermolysis bullosa simplex, KRT5-related, dog" "Any epidermolysis bullosa simplex that occurs in dogs due to a mutation in the KRT5 gene." "" @@ -29687,26 +29735,52 @@ "spinocerebellar ataxia, KCNJ10-related, dog" "Any spinocerebellar ataxia that occurs in dogs due to a mutation in the KCNJ10 gene." "" "spinocerebellar ataxia, SPTBN2-related, dog" "Any cerebellar ataxia that occurs in dogs due to a mutation in the SPTBN2 gene." "" "spinocerebellar ataxia, ITPR1-related, dog" "Any cerebellar ataxia that occurs in dogs due to a mutation in the ITPR1 gene." "" + "ichthyosis, ASPRV1-related, dog" "Ichthyosis that occurs in dogs due to a mutation in the ASPRV1 gene." "" "cerebellar ataxia, ATP1B2-related, dog" "Any cerebellar ataxia that occurs in dogs due to a mutation in the ATP1B2 gene." "" "cataract, CPAMD8-related, cattle" "Any cataract that occurs in cattle due to a mutation in the CPAMD8 gene." "" + "hypotrichosis, KRT71-related, cattle" "Congenital hypotrichosis that occurs in cattle due to a mutation in the KRT71 gene." "" + "congenital hypotrichosis, non-human animal" "Congenital hypotrichosis that occurs in non-human animals." "" "oculocutaneous albinism, HPS5-related, three-spined stickleback" "Oculocutaneous albinism that occurs in three-spined stickleback due to a mutation in the HPS5 gene." "" "oculocutaneous albinism, HPS5-related, domestic cat" "Oculocutaneous albinism that occurs in cats due to a mutation in the HPS5 gene." "" "arthrogryposis multiplex congenita, AGRN-related, cattle" "Any arthrogryposis multiplex congenita that occurs in cattle due to a mutation in the AGRN gene." "" + "Leigh syndrome, SURF1-related, pig" "A mitochondrial disease characterized by central nervous system development delay that occurs in pigs due to a mutation in the SURF1 gene created by genetic engineering or gene editing." "" + "hereditary nonpolyposis colorectal cancer, MSH6-related, rhesus monkey" "Tumors at the ileocecal junction, cecum and proximal colon that occur in rhesus macaques due to a germline mutation in the MSH6 gene." "" "spinocerebellar ataxia, SCN8A-related, dog" "Any cerebellar ataxia that occurs in dogs due to a mutation in the SCN8A gene." "" "primary ciliary dyskinesia, NME5-related, dog" "Primary ciliary dyskinesia that occurs in dogs due to a mutation in the NME5 gene." "" "congenital eye malformation, SIX6-related, dog" "Any inherited eye defect that occurs in dogs due to a mutation in the SIX6 gene." "" + "hypertrophic cardiomyopathy, MYH7-related, domestic cat" "Hypertrophic cardiomyopathy that occurs in cats due to a mutation in the MYH7 gene." "" + "hypertrophic cardiomyopathy, MYH7-related, pig" "Hypertrophic cardiomyopathy that occurs in pigs due to a mutation in the MYH7 gene." "" + "hypertrophic cardiomyopathy, MYH7-related, rabbit" "Hypertrophic cardiomyopathy that occurs in rabbits due to a mutation in the MYH7 gene." "" + "leukodystrophy, TSEN54-related, dog" "Leukodystrophy that occurs in dogs due to a mutation in the TSEN54 gene." "" + "hypogonadotropic hypogonadism, TAC3-related, domestic cat" "Hypogonadism characterized by dysfunctional GnRH release leading to low blood testosterone and pituitary hormone levels and impaired testicular function that occurs in cats due to a mutation in the TAC3 gene." "" + "laryngeal paralysis, RAPGEF6-related, dog" "Laryngeal paralysis that occurs in dogs due to a mutation in the RAPGEF6 gene." "" + "lipid malabsorption, ACSL5-related, dog" "An inborn error of lipid metabolism characterized by stunted postnatal growth, steatorrhea, abdominal distension and wiry coat that occurs in dogs due to a mutation in the ACSL5 gene." "" + "hypotrichosis, HR-related, domestic cat" "Congenital hypotrichosis that occurs in cats due to a mutation in the HR gene." "" + "hypotrichosis, HR-related, pig" "Congenital hypotrichosis that occurs in pigs due to a mutation in the HR gene created by genetic engineering or gene editing." "" + "hypotrichosis, HR-related, sheep" "Congenital hypotrichosis that occurs in sheep due to a mutation in the HR gene." "" + "hypotrichosis, HEPHL1-related, cattle" "Congenital hypotrichosis that occurs in cattle due to a mutation in the HEPHL1 gene." "" + "congenital myopathy, SPTBN4-related, pig" "Any congenital myopathy that occurs in pigs due to a mutation in the SPTBN4 gene." "" + "ichthyosis, ABCA12-related, pig" "Ichthyosis that occurs in pigs due to a mutation in the ABCA12 gene." "" + "ichthyosis, ABCA12-related, cattle" "Ichthyosis that occurs in cattle due to a mutation in the ABCA12 gene." "" "hereditary cerebellar ataxia, KCNIP4-related, dog" "Any cerebellar ataxia that occurs in dogs due to a mutation in the KCNIP4 gene." "" + "muscular dystrophy, ANO5-related, rabbit" "Any muscular dystrophy that occurs in rabbits due to a mutation in the ANO5 gene created by genetic engineering or gene editing." "" + "ichthyosis, DSP-related, cattle" "Ichthyosis that occurs in cattle due to a mutation in the DSP gene." "" "craniomandibular osteopathy, SLC37A2-related, dog" "Any craniomandibular osteopathy that occurs in dogs due to a mutation in the SLC37A2 gene." "" + "junctional epidermolysis bullosa, LAMB3-related, dog" "Junctional epidermolysis bullosa that occurs in dogs due to a mutation in the LAMB3 gene." "" "spinocerebellar ataxia, SLC12A6-related, dog" "Any cerebellar ataxia that occurs in dogs due to a mutation in the SLC12A6 gene." "" "epidermolysis bullosa simplex, KRT14-related, domestic cat" "Any epidermolysis bullosa simplex that occurs in cats due to a mutation in the KRT14 gene." "" "arthrogryposis multiplex congenita, KIF21A-related, pig" "Any arthrogryposis multiplex congenita that occurs in pigs due to a mutation in the KIF21A gene." "" + "muscular dystrophy, TNNT1-related, sheep" "Any muscular dystrophy that occurs in sheep due to a mutation in the TNNT1 gene." "" "cerebellar degeneration-myositis complex, SLC25A12-related, dog" "Any cerebellar ataxia with neuromuscular weakness, increase in serum creatine kinase, and lymphohistiocytic myositis without evidence of intracellular infectious agents that occurs in dogs due to a mutation in the SLC25A12 gene." "" + "laryngeal paralysis and polyneuropathy, CNTNAP1-related, dog" "Laryngeal paralysis with variable dysphagia, dysphonia, high-stepping and uncoordinated gait, exercise intolerance, stumbling and tripping, and limb muscle atrophy that occurs in dogs due to a mutation in the CNTNAP1 gene." "" "cerebral dysgenesis, PEA15 related, domestic cat" "Abnormal development of the telencephalon characterized by microcephaly and polymicrogyria that occurs in cats due to a mutation in the PEA15 gene." "" + "limb-girdle muscular dystrophy, SGCA-related, dog" "Any muscular dystrophy that occurs in dogs due to a mutation in the SGCA gene." "" "dilated cardiomyopathy, DMD-related, rabbit" "X-linked dilated cardiomyopathy that occurs in rabbits due to a mutation in the DMD gene created by genetic engineering or gene editing." "" "cataract, MIP-related, giant panda" "Any cataract that occurs in giant pandas due to a mutation in the MIP gene." "" "60,XX/90,XXY disorder of sexual development, cattle" "A congenital disorder characterized by abnormalities in the development of the sexual characteristics that occurs in cattle due to diploid/triploid (60,XX/90,XXY) mosaicism." "" "pituitary dwarfism, LHX3-related, dog" "Any pituitary dwarfism that occurs in dogs due to a mutation in the LHX3 gene." "" "pituitary dwarfism, POU1F1-related, dog" "Any pituitary dwarfism that occurs in dogs due to a mutation in the POU1F1 gene." "" + "hypertrophic cardiomyopathy, ALMS1-related, domestic cat" "Hypertrophic cardiomyopathy that occurs in cats due to a mutation in the ALMS1 gene." "" "abnormal gait, retinal dysplasia, cataracts, RORB-related, rabbit" "Abnormal locomotion defined by the loss of typical jumping and blindness at birth due to retinal dysplasia and early-onset cataracts that occurs in rabbits due to a mutation in the RORB gene." "" "paroxysmal dyskinesia, SOD1-related, dog" "Any paroxysmal dyskinesia that occurs in dogs due to a mutation in the SOD1 gene." "" "epilepsy, mitochondrial dysfunction and neurodegeneration, PITRM1-related, dog" "A neurodegenerative brain disorder with mitochondrial dysfunction, amyloid-β accumulation, and lethal epilepsy that occurs in dogs due to a mutation in the PITRM1 gene." "" @@ -29714,19 +29788,33 @@ "deafness, KLF7-related, dog" "Any hearing loss that occurs in dogs due to a mutation in the KLF7 gene." "" "hearing loss disorder, non-human animal" "Hearing loss disorder that occurs in non-human animals" "" "inherited auditory system disease, non-human animal" "Inherited auditory system disease that occurs in non-human animals." "" + "hypercholesterolemia, PCSK9-related, rabbit" "Hypercholesterolemia that occurs in rabbits due to a mutation in the PCSK9 gene created by genetic engineering or gene editing." "" + "hyperlipidemia, non-human animal" "Hyperlipidemia that occurs in non-human animals." "" + "long QT syndrome, KCNQ1-related, rabbit" "Any heart disorder characterized by pathologically prolonged ventricular action potential duration that occurs in rabbits due to a mutation in the KCNQ1 gene created by genetic engineering or gene editing." "" + "long QT syndrome, KCNH2-related, rabbit" "Any heart disorder characterized by pathologically prolonged ventricular action potential duration with sudden cardiac death due to polymorphic vetricular tachycardia that occurs in rabbits due to a mutation in the KCNH2 gene created by genetic engineering or gene editing." "" + "long QT syndrome, KCNE1-related, rabbit" "Any heart disorder characterized by pathologically prolonged ventricular action potential duration that occurs in rabbits due to a mutation in the KCNE1 gene created by genetic engineering or gene editing." "" "deafness, LOXHD1-related, dog" "Any hearing loss that occurs in dogs due to a mutation in the LOXHD1 gene." "" "primary ciliary dyskinesia, CCDC65-related, sheep" "Primary ciliary dyskinesia that occurs in sheep due to a mutation in the CCDC65 gene. Homozygous affected lambs suffer from respiratory defects predisposing infectious pneumonia with a fatal ending at a young age." "" "deafness, OSBPL2-related, pig" "Any hearing loss and hypercholesterolaemia that occurs in pigs due to a mutation in the OSBPL2 gene created by genetic engineering or gene editing." "" "dilated cardiomyopathy, RBM20-related, dog" "Any dilated cardiomyopathy that occurs in dogs due to a mutation in the RBM20 gene." "" "cerebellar ataxia, SELENOP-related, dog" "Any cerebellar ataxia that occurs in dogs due to a mutation in the SELENOP gene." "" + "ichthyosis, ABHD5-related, dog" "Ichthyosis that occurs in dogs due to a mutation in the ABHD5 gene." "" + "motor neuron disease, TMCO6-related, sheep" "Motor neuron disease that occurs in sheep due to a mutation in the TMCO6 gene." "" + "microcephaly, MFSD2A-related, sheep" "Microcephaly that occurs in sheep due to a mutation in the MFSD2A gene." "" "Charcot Marie Tooth disease, FGD4-related, cattle" "Charcot-Marie-Tooth disease that occurs in cattle due to a mutation in the FGD4 gene." "" "Charcot-Marie-Tooth disease, non-human animal" "Charcot-Marie-Tooth disease that occurs in non-human animals." "" "congenital disorder of glycosylation, GALNT2-related, cattle" "Any congenital disorder of glycosylation that occurs in cattle due to a mutation in the GALNT2 gene." "" "cleft lip, GADD45G-related, rabbit" "Cleft lip that occurs in rabbits due to a mutation in the GADD45G gene created by genetic engineering or gene editing." "" "deafness, OTOF-related, sheep" "Any hearing loss that occurs in sheep due to a mutation in the OTOF gene created by genetic engineering or gene editing." "" + "ichthyosis, KRT1-related, dog" "Ichthyosis that occurs in dogs due to a mutation in the KRT1 gene." "" "deafness, GJB2-related, pig" "Any hearing loss that occurs in pigs due to a mutation in the GJB2 gene created by genetic engineering or gene editing." "" + "hydrallantois, SLC12A1-related, cattle" "Hydrallantois that occurs in cattle due to a mutation in the SLC12A1 gene." "" + "ichthyosis, FA2H-related, cattle" "Ichthyosis that occurs in cattle due to a mutation in the FA2H gene." "" + "hair shaft dysplasia, DSG4-related, domestic cat" "A disorder characterized by bulbous swellings of the hair shafts and hypotrichosis that occurs in cats due to a mutation in the DSG4 gene." "" "fragile X syndrome, FMR1-related, white-tufted-ear marmoset" "Any hereditary neurological disease that occurs in white-tufted-ear marmoset due to a mutation in the FMR1 gene created by genetic engineering or gene editing." "" + "hypoparathyroidism, RAPGEF5-related, horse" "Hypoparathyroidism that occurs in horses due to a mutation in the RAPGEF5 gene. Affected foals present with hypocalcemia, tetany and seizures." "" "congenital muscular dystrophy, LAMA2-related, dog" "Any muscular dystrophy that occurs in dogs due to a mutation in the LAMA2 gene." "" + "muscular dystrophy-dystroglycanopathy, LARGE1-related, dog" "Any muscular dystrophy due to abnormal glycosylation of α-dystroglycan that occurs in dogs due to a mutation in the LARGE1 gene." "" "cryopyrin-associated periodic syndrome, NLRP3-related, pig" "Spontaneous systemic inflammation signs and increased delayed hypersensitivity response that occurs in pigs due to a mutation in the NLRP3 gene created by genetic engineering or gene editing." "" "dental-skeletal-retinal anomaly, MIA3-related, dog" "Brittle, discolored, translucent teeth, disproportionate growth and progressive retinal degeneration resulting in vision loss that occurs in dogs due to a mutation in the MIA3 gene." "" "spinocerebellar ataxia, ATXN3-related, white-tufted-ear marmoset" "Any cerebellar ataxia that occurs in white-tufted-ear marmoset due to a mutation in the ATXN3 gene." "" @@ -29750,9 +29838,11 @@ "chondrodysplasia, UGDH-related, domestic cat" "Hereditary chondrodysplasia that occurs in cats due to a mutation in the UGDH gene." "" "cleft primary palate, ESRP2-related, chicken" "Cleft palate that occurs in chickens due to a mutation in the ESRP2 gene." "" "deafness, EPS8L2-related, dog" "Any hearing loss that occurs in dogs due to a mutation in the EPS8L2 gene." "" + "Lewy body-like disease, CADPS2-related, yellow-crowned parrot" "A neurodegenerative disease characterized by severe ataxia, rigidity, and tremor with neuronal loss, spongiosis, and widespread Lewy body-like inclusions in many regions of the brain including the midbrain, basal ganglia, and neocortex that occurs in yellow-crowned parrot due to a mutation in the CADPS2 gene." "" "Alzheimer disease, SORL1-related, pig" "Alzheimer disease that occurs in pigs due to a mutation in the SORL1 gene created by genetic engineering or gene editing." "" "deafness, CDH23-related, dog" "Any hearing loss that occurs in dogs due to a mutation in the CDH23 gene." "" "cleft palate, MYH3-related, cattle" "Cleft palate that occurs in cattle due to a mutation in the MYH3 gene." "" + "lysosomal storage disease, CNP-related, dog" "Any lysosomal storage disease that occurs in dogs due to a mutation in the CNP gene." "" "dwarfism, ANKRD28-related, cattle" "Any dwarfism that occurs in cattle due to a mutation in the ANKRD28 gene." "" "amelogenesis imperfecta, FAM83H-related, rabbit" "Any amelogenesis imperfecta that occurs in rabbits due to a mutation in the FAM83H gene." "" "cerebellar abiotrophy, VMP1-related, dog" "Any cerebellar abiotrophy that occurs in dogs due to a mutation in the VMP1 gene." "" diff --git a/src/ontology/reports/mondo_obsoletioncandidates.tsv b/src/ontology/reports/mondo_obsoletioncandidates.tsv index 50c72c9787..f4b725d5fc 100644 --- a/src/ontology/reports/mondo_obsoletioncandidates.tsv +++ b/src/ontology/reports/mondo_obsoletioncandidates.tsv @@ -349,9 +349,9 @@ MONDO:0035713 FOXG1 syndrome due to intragenic alteration Reason of obsoletion: MONDO:0037938 inborn disorder of aspartate family metabolism Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: - https://github.com/monarch-initiative/mondo/issues/7700 2024-09-01 MONDO:0040872 non-psychogenic polydipsia Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: - https://github.com/monarch-initiative/mondo/issues/7700 2024-09-01 MONDO:0042973 familial osteosclerosis Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: - https://github.com/monarch-initiative/mondo/issues/7700 2024-09-01 +MONDO:0042975 pseudoachondroplastic dysplasia 2 Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: - https://github.com/monarch-initiative/mondo/issues/8516 2025-03-01 MONDO:0043108 infantile striato thalamic degeneration Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: - https://github.com/monarch-initiative/mondo/issues/7700 2024-09-01 MONDO:0044201 T+ B+ severe combined immunodeficiency Reason of obsoletion: grouping class - MONDO:excludeGroupingClass. Term to consider: combined immunodeficiency-MONDO:0015131 https://github.com/monarch-initiative/mondo/issues/7461 2024-06-01 -MONDO:0044715 metopic ridging-ptosis-facial dysmorphism syndrome Reason of obsoletion: duplicate. This will be merged with MONDO:0032836 Weiss-kruszka syndrome https://github.com/monarch-initiative/mondo/issues/6744|https://github.com/monarch-initiative/mondo/issues/6751|https://github.com/monarch-initiative/mondo/issues/7687 2025-01-01 MONDO:0044763 diarrheal disease secondary to decreased bowel motility Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: - https://github.com/monarch-initiative/mondo/issues/7700 2024-09-01 MONDO:0044880 cystic tumor of the pancreas Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: - https://github.com/monarch-initiative/mondo/issues/7700 2024-09-01 MONDO:0045004 skeletal ligament disorder Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: - https://github.com/monarch-initiative/mondo/issues/7700 2024-09-01 @@ -373,4 +373,5 @@ MONDO:0100107 non-neonatal early infantile epileptic encephalopathy Reason of ob MONDO:0100113 hearing loss with skin disease Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: - https://github.com/monarch-initiative/mondo/issues/7700 2024-09-01 MONDO:0800112 non-atopic asthma Reason of obsoletion: duplicate. This will be merged with MONDO:0004765 intrinsic asthma https://github.com/monarch-initiative/mondo/issues/5261|https://github.com/monarch-initiative/mondo/issues/7691 2024-08-01 MONDO:0850093 absence epilepsy Reason of obsoletion: out of scope - MONDO:excludePhenotype. Term to consider: Typical absence seizure HP:0011147 https://github.com/monarch-initiative/mondo/issues/8468 2025-02-01 +MONDO:0859001 CPE-related Prader-Willi-like syndrome Reason of obsoletion: duplicate. This will be merged with MONDO:0859150 BDV syndrome https://github.com/monarch-initiative/mondo/issues/8480 2025-03-01 MONDO:0957426 autosomal recessive hyper-IgE syndrome Reason of obsoletion: duplicate. This will be merged with MONDO:0032654 hyper-IgE recurrent infection syndrome 3, autosomal recessive' https://github.com/monarch-initiative/mondo/issues/7844 2025-02-01 diff --git a/src/ontology/reports/mondo_release_diff_changed_terms.tsv b/src/ontology/reports/mondo_release_diff_changed_terms.tsv index 9c2643f2fd..58f28c2bae 100644 --- a/src/ontology/reports/mondo_release_diff_changed_terms.tsv +++ b/src/ontology/reports/mondo_release_diff_changed_terms.tsv @@ -26,6 +26,7 @@ MONDO:0035433 label calpain-3-related limb-girdle muscular dystrophy D4 obsolete MONDO:0035454 label B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome obsolete B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome MONDO:0042724 label macrocephaly, intellectual disability, short stature, spastic paraplegia and cns malformations obsolete macrocephaly, intellectual disability, short stature, spastic paraplegia and cns malformations MONDO:0042965 label Machado-Joseph disease type 5 obsolete Machado-Joseph disease type 5 +MONDO:0044715 label metopic ridging-ptosis-facial dysmorphism syndrome obsolete metopic ridging-ptosis-facial dysmorphism syndrome MONDO:0100551 label SPATA5L1-related complex neurodevelopmental disorder with motor features and hearing loss AFG2B-related complex neurodevelopmental disorder with motor features and hearing loss MONDO:0859345 label branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome obsolete branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome MONDO:0859569 label braddock-carey syndrome 1 Braddock-Carey syndrome 1 @@ -35,6 +36,7 @@ MONDO:0016387 definition A multisystem disorder with variable manifestations re MONDO:0006846 definition Severe hypertension that is characterized by rapid onset of extremely high blood pressure. Severe hypertension that is characterized by rapid onset of extremely high blood pressure and hypertension-mediated organ damage. MONDO:0100010 definition Disorders that are causes by overuse of tendons. A disease involving the tendon. MONDO:0006465 definition A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent. +MONDO:0018637 definition A rare autosomal recessive disease characterized by the buildup in the blood of fat particles called chylomicrons (chylomicronemia), severe hypertriglyceridemia, and the risk of recurrent and potentially fatal pancreatitis and other complications. It is caused by mutations in the gene encoding LPL or, less frequently, by mutations in genes encoding other proteins necessary for LPL function. MONDO:0008597 definition A trichorhinophalangeal syndrome caused by mutations in TRPS1 characterized by the presence of severe brachydactyly, due to short metacarpals, and severe short stature. OBSOLETE. A trichorhinophalangeal syndrome caused by mutations in TRPS1 characterized by the presence of severe brachydactyly, due to short metacarpals, and severe short stature. MONDO:0020175 definition A cancer that involves the skin of eyelid. MONDO:0011893 definition An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.1-q32. OBSOLETE. An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.1-q32. @@ -53,6 +55,8 @@ MONDO:0054770 definition Orofaciodigital syndrome 18 (OFD18) is characterized b MONDO:0060622 definition A complex neurodevelopmental disorder caused by variation in DHX30. Individuals with variants in DHX30 have been found to have variable presentations including intellectual development, delayed or absent speech development, delayed motor development, hypotonia, feeding difficulties, and ataxic gait or the inability to walk. Other phenotypic features commonly reported include sleep disorders, autistic features, seizures, and joint hypermobility MONDO:0100551 definition A neurodevelopmental disorder related to biallelic variants in SPATA5L1 and characterized by a spectrum of intellectual disability, hearing loss, and motor features including spasticity, dystonia, and/or hypotonia. Other phenotypic features commonly reported with the neurodevelopmental presentation include spasticity, focal or generalized epilepsy, and microcephaly. A neurodevelopmental disorder related to biallelic variants in AFG2B and characterized by a spectrum of intellectual disability, hearing loss, and motor features including spasticity, dystonia, and/or hypotonia. Other phenotypic features commonly reported with the neurodevelopmental presentation include spasticity, focal or generalized epilepsy, and microcephaly. MONDO:0859267 definition An autosomal recessive cancer predisposition syndrome characterized by the onset of various types of tumors or malignancies in young adulthood. The most common clinical manifestations include acute myeloid leukemia (AML), myelodysplastic syndrome, colorectal adenomatous polyposis and carcinoma, and uveal melanoma. +MONDO:1011672 definition A gestational disease affecting pregnant animals characterized by excessive accumulation of fluid within the allantoic cavity and associated with fetal and placental abnormalities and fetal mortality. +MONDO:1011928 definition A respiratory disorder characterized by an inability to abduct the arytenoid cartilages during inspiration resulting in a partial to complete airway obstruction and consequent respiratory distress. MONDO:0000169 obsoletion_candidate True MONDO:0000411 obsoletion_candidate True MONDO:0000584 obsoletion_candidate True @@ -87,7 +91,10 @@ MONDO:0035454 obsoletion_candidate True MONDO:0035713 obsoletion_candidate True MONDO:0042724 obsoletion_candidate True MONDO:0042965 obsoletion_candidate True +MONDO:0042975 obsoletion_candidate True +MONDO:0044715 obsoletion_candidate True MONDO:0100031 obsoletion_candidate True +MONDO:0859001 obsoletion_candidate True MONDO:0859345 obsoletion_candidate True MONDO:0957426 obsoletion_candidate True MONDO:0000169 obsolete True @@ -111,4 +118,5 @@ MONDO:0035433 obsolete True MONDO:0035454 obsolete True MONDO:0042724 obsolete True MONDO:0042965 obsolete True +MONDO:0044715 obsolete True MONDO:0859345 obsolete True diff --git a/src/ontology/reports/mondo_release_diff_new_terms.tsv b/src/ontology/reports/mondo_release_diff_new_terms.tsv index 1ad14dadea..80aa157e7f 100644 --- a/src/ontology/reports/mondo_release_diff_new_terms.tsv +++ b/src/ontology/reports/mondo_release_diff_new_terms.tsv @@ -1,5 +1,6 @@ mondo_id label definition obsolete obsoletion_candidate MONDO:1010097 DHDDS-related syndrome Any neurological disorder in which the cause of the disease is a mutation in the DHDDS gene. +MONDO:1012585 neonatal cerebellar ataxia, GRM1-related, dog Any cerebellar ataxia that occurs dogs due to a mutation in the GRM1 gene. MONDO:1012586 oculocutaneous albinism, TYR-related, Japanese ratsnake Oculocutaneous albinism that occurs in Japanese ratsnake due to a mutation in the TYR gene. MONDO:1012587 oculocutaneous albinism, TYR-related, American mink Oculocutaneous albinism that occurs in American mink due to a mutation in the TYR gene. MONDO:1012588 oculocutaneous albinism, TYR-related, Japanese raccoon dog Oculocutaneous albinism that occurs in Japanese raccoon dog due to a mutation in the TYR gene. @@ -19,10 +20,33 @@ MONDO:1012601 sex-linked dwarfism, GHR-related, chicken Any sex-linked dwarfism MONDO:1012602 GM2 gangliosidosis, dog A lysosomal storage disease that occurs in dogs in which there is a buildup of GM2 gangliosides in tissues due to the lack of the enzyme hexosaminidase. It is characterised by progressive neuromuscular dysfunction and impaired growth from an early age. MONDO:1012603 GM2 gangliosidosis, domestic cat A lysosomal storage disease that occurs in cats in which there is a buildup of GM2 gangliosides in tissues due to the lack of the enzyme hexosaminidase. It is characterised by progressive neuromuscular dysfunction and impaired growth from an early age. MONDO:1012604 GM2 gangliosidosis, pig A lysosomal storage disease that occurs in pigs in which there is a buildup of GM2 gangliosides in tissues due to the lack of the enzyme hexosaminidase. It is characterised by progressive neuromuscular dysfunction and impaired growth from an early age. +MONDO:1012605 glycogen storage disease IV, dog Any glycogen storage disease that occurs in dogs due to a glycogen branching enzyme (GBE) deficiency. +MONDO:1012606 glycogen storage disease IV, domestic cat Any glycogen storage disease that occurs in cats due to a mutation in the GBE1 gene. +MONDO:1012607 glycogen storage disease IV, horse Any glycogen storage disease that occurs in horses due to a mutation in the GBE1 gene. +MONDO:1012608 fasting unconjugated hyperbilirubinemia, Bolivian squirrel monkey Any unconjugated hyperbilirubinemia due to an increase in the bilirubin turnover/production rate and/or decreased hepatic conjugation during fasting that occurs in Bolivian squirrel monkey. +MONDO:1012609 unconjugated hyperbilirubinemia, horse Unconjugated hyperbilirubinemia that occurs in horses. +MONDO:1012611 conjugated hyperbilirubinemia, sheep A liver disorder characterized by chronic conjugated hyperbilirubinemia and gross dark brown to black discoloration of the liver that occurs in sheep. +MONDO:1012612 conjugated hyperbilirubinemia, golden lion tamarin A liver disorder characterized by chronic conjugated hyperbilirubinemia and abundant intrahepatic pigment in a centrilobular and midzonal distribution that occurs in golden lion tamarins. +MONDO:1012613 intestinal cobalamin (vitamin B12) malabsorption, AMN-related, dog Intestinal cobalamin (vitamin B12) malabsorption that occurs in dogs due to a mutation in the AMN gene. +MONDO:1012614 membranoproliferative glomerulonephritis, CFH-related, pig Form of glomerulonephritis that occurs in pigs, is characterized by glomerular hypercellularity and thickening of the glomerular capillary walls and glomerular basement membrane due to large amounts of dense deposits, and is caused by an absence of omplement regulator factor H. +MONDO:1012615 mesangiocapillary glomerulonephritis, type I, sheep A form of glomerulonephritis that occurs in sheep and is characterized by thickening of glomerular capillary basement membranes, proliferation of mesangial cells, and peri-glomerular fibrosis and associated with C3 deficiency. +MONDO:1012616 microphthalmia-4, chicken Inherited microphthalmia that occurs in female chickens. +MONDO:1012617 mucopolysaccharidosis I, dog Any lysosomal storage disorder that occurs in dogs due to a mutation in the IDUA gene. +MONDO:1012618 mucopolysaccharidosis I, domestic cat Any lysosomal storage disorder that occurs in cats due to a mutation in the IDUA gene. MONDO:1012620 congenital myasthenic syndrome, CHRNE-related, dog Inherited disorder of neuromuscular transmission resulting in muscle weakness and fatigability exacerbated by exercise that occurs in dogs due to a mutation in the CHRNE gene. MONDO:1012621 congenital myasthenic syndrome, CHRNE-related, cattle Inherited disorder of neuromuscular transmission resulting in progressive muscle weakness and mortality that occurs in young calves due to a mutation in the CHRNE gene. +MONDO:1012645 nephritis, COL4A5-related, dog Nephritis that occurs in male dogs due to a mutation in the COL4A5 gene. +MONDO:1012646 autosomal dominant nephritis, dog Autosomal dominant form of nephritis that occurs in dogs. +MONDO:1012660 mucolipidosis, GNPTAB-related, domestic cat Mucolipidosis that occurs in cats due to a mutation in the GNPTAB gene. MONDO:1012662 dwarfism, ACAN-related, horse Any dwarfism that occurs in horses due to a mutation in the ACAN gene. MONDO:1012663 dwarfism, ACAN-related, cattle Any dwarfism that occurs in cattle due to a mutation in the ACAN gene. +MONDO:1012664 mucopolysaccharidosis II, Kaka Any lysosomal storage disorder characterized by deficient iduronate-2-sulfatase (IDS) activity that occurs in kakas. +MONDO:1012665 mucopolysaccharidosis II, dog Any lysosomal storage disorder characterized by deficient iduronate-2-sulfatase (IDS) activity that occurs in dogs. +MONDO:1012666 hereditary footpad hyperkeratosis, FAM83G-related, dog An orthokeratotic palmoplantar hyperkeratosis leading to thickened and hardened footpads that occurs in dogs starting at an age of 18 to 24 weeks of age due to a mutation in the FAM83G gene. +MONDO:1012669 mucopolysaccharidosis IIIB, emu Any lysosomal storage disorder that occurs in emu due to a mutation in the NAGLU gene. +MONDO:1012670 mucopolysaccharidosis IIIB, dog Any lysosomal storage disorder that occurs in dogs due to a mutation in the NAGLU gene. +MONDO:1012671 mucopolysaccharidosis IIIB, pig Any lysosomal storage disorder that occurs in pigs due to a mutation in the NAGLU gene created by genetic engineering or gene editing. +MONDO:1012672 mucopolysaccharidosis IIIB, cattle Any lysosomal storage disorder that occurs in cattle due to a mutation in the NAGLU gene. MONDO:1012675 osteochondrodysplasia, SLC13A1-related, dog Hereditary osteochondrodysplasia that occurs in dogs due to a mutation in the SLC13A1 gene. MONDO:1012676 chondrodysplasia, SLC13A1-related, sheep Hereditary chondrodysplasia that occurs in sheep due to a mutation in the SLC13A1 gene. MONDO:1012684 congenital muscular dystonia SLC6A5-related, cattle Lateral recumbency, low head carriage and transient muscle spasms following tactile or auditory stimulation that occurs in cattle due to a mutation in the SLC6A5 gene. @@ -33,10 +57,24 @@ MONDO:1012688 GM2 gangliosidosis, HEXA-related, pig A lysosomal storage disease MONDO:1012689 GM2 gangliosidosis, Muntjak deer A lysosomal storage disease that occurs in Muntjak deer in which there is a buildup of GM2 gangliosides in tissues due to the lack of the enzyme β-hexosaminidase A. It is characterised by depression, ataxia, circling and visual deficits from an early age. MONDO:1012690 GM2 gangliosidosis, HEXA-related, sheep A lysosomal storage disease that occurs in sheep due to a mutation in the HEXA gene. MONDO:1012691 GM2 gangliosidosis, rabbit A lysosomal storage disease that occurs in rabbits in which there is a buildup of GM2 gangliosides in the brain due to the lack of the enzyme β-hexosaminidase A. It is characterised by rapidly progression of neurological signs. +MONDO:1012692 canine multiple system degeneration, SERAC1-related, dog A progressive hereditary neurodegenerative disorder that occurs in dogs and is characterized by neuronal degeneration and loss in the cerebellum, olivary nuclei, substantia nigra, and caudate nuclei due to a mutation in the SERAC1 gene. +MONDO:1012693 melanoma-bearing Libechov minipig, pig Hereditary melanoma that occurs in melanoma-bearing Libechov minipipgs due to selective breeding for the purpose of creating a swine model of hereditary metastatic melanoma. MONDO:1012694 dwarfism, PRKG2-related, dog Any dwarfism that occurs in dogs due to a mutation in the PRKG2 gene. MONDO:1012695 dwarfism, PRKG2-related, cattle Any dwarfism that occurs in cattle due to a mutation in the PRKG2 gene. +MONDO:1012699 lysosomal storage disease, ARSG related, dog Any lysosomal storage disease that occurs in dogs due to a mutation in the ARSG gene. MONDO:1012700 geleophysic dysplasia, ADMATSL2-related, dog A hereditary connective tissue disorder characterized by extensive fibrosis of the skin and joints that occurs in dogs due to a mutation in the ADAMTSL2 gene. +MONDO:1012711 immunodeficiency syndrome, SLC5A3-related, horse Immunodeficiency characterized by B-lymphocyte lymphopenia and progressive anemia that occurs in horses due to a mutation in the SLC5A3 gene. +MONDO:1012712 ichthyosis, PNPLA1-related, dog Ichthyosis that occurs in dogs due to a mutation in the PNPLA1 gene. +MONDO:1012718 muscular dystrophy with reduced β-sarcoglycan, domestic cat Any muscular dystrophy associated with β-sarcoglycan deficiency that occurs in cats. +MONDO:1012723 junctional epidermolysis bullosa, LAMA3-related, dog Junctional epidermolysis bullosa that occurs in dogs due to a mutation in the LAMA3 gene. +MONDO:1012724 junctional epidermolysis bullosa, LAMA3-related, horse Junctional epidermolysis bullosa that occurs in horses due to a mutation in the LAMA3 gene. +MONDO:1012725 junctional epidermolysis bullosa, LAMA3-related, cattle Junctional epidermolysis bullosa that occurs in cattle due to a mutation in the LAMA3 gene. +MONDO:1012726 junctional epidermolysis bullosa, LAMC2-related, horse Junctional epidermolysis bullosa that occurs in horses due to a mutation in the LAMC2 gene. +MONDO:1012727 junctional epidermolysis bullosa, LAMC2-related, cattle Junctional epidermolysis bullosa that occurs in cattle due to a mutation in the LAMC2 gene. +MONDO:1012728 junctional epidermolysis bullosa, LAMC2-related, sheep Junctional epidermolysis bullosa that occurs in sheep due to a mutation in the LAMC2 gene. +MONDO:1012730 hemifacial microsomia, domestic cat Any congenital malformation syndrome presenting with unilateral craniofacial abnormalities that occurs in cats. MONDO:1012733 Ehlers-Danlos syndrome with absence of dermatan sulfate proteoglycan, cattle Any Ehlers-Danlos syndrome that occurs in cattle with absence of dermatan sulfate proteoglycan. +MONDO:1012737 intestinal cobalamin (vitamin B12) malabsorption, CUBN-related, dog Intestinal cobalamin (vitamin B12) malabsorption that occurs in dogs due to a mutation in the CUBN gene. MONDO:1012738 hereditary chondrodysplasia, dog Any hereditary chondrodysplaisa that occurs in dogs characterized by short limbs and radius curvus deformity. MONDO:1012741 Chiari-like malformation, dog Any Chiari malformation that occurs in dogs. MONDO:1012742 primary open angle glaucoma, ADAMTS10-related, dog Any primary open angle glaucoma that occurs in dogs due to a mutation in the ADAMTS10 gene. @@ -45,40 +83,81 @@ MONDO:1012745 autosomal dominant cystinuria, SLC7A9-related, dog Any autosomal d MONDO:1012746 sex-limited cystinuria, dog Any androgen-dependent cystinuria that occurs in intact male dogs. MONDO:1012750 cleft palate, DLX6-related, dog Cleft palate that occurs in dogs due to a mutation in the DLX6 gene. MONDO:1012756 congenital liver fibrosis, PKHD1-related, horse A developmental disorder of the biliary system caused by a congenital defect in the remodeling of the ductal plate at the level of the interlobular ducts, resulting in persistence of excessive abnormal embryonic bile duct structures, irregular portal veins, and progressive fibrosis of the portal tracts that occurs in horses due to a mutation in the PKHD1 gene. +MONDO:1012758 junctional epidermolysis bullosa, ITGB4-related, cattle Junctional epidermolysis bullosa that occurs in cattle due to a mutation in the ITGB4 gene. +MONDO:1012759 junctional epidermolysis bullosa, ITGB4-related, sheep Junctional epidermolysis bullosa that occurs in sheep due to a mutation in the ITGB4 gene. MONDO:1012760 cholesterol deficiency, APOB-related, cattle Low plasma cholesterol concentration that occurs in cattle due to a mutation in the APOB gene mutation. The “cholesterol deficiency” is a consequence of a decreased ability to be incorporated into lipoproteins for transport in circulation. MONDO:1012764 primary open angle glaucoma, ADAMTS17-related, dog Any primary open angle glaucoma that occurs in dogs due to a mutation in the ADAMTS17 gene. MONDO:1012766 dwarfism, GON4L-related, cattle Any dwarfism that occurs in cattle due to a mutation in the GON4L gene. MONDO:1012773 cystinuria, SLC7A9-related, domestic cat Any cystinuria that occurs in cats due to a mutation in the SLC7A9 gene. +MONDO:1012776 atherosclerosis, APOE-related, rabbit Atherosclerosis that occurs in rabbits due to a mutation in the APOE gene created by genetic engineering or gene editing. MONDO:1012777 dwarfism, B4GALT7-related, horse Any dwarfism that occurs in horses due to a mutation in the B4GALT7 gene. MONDO:1012778 epidermolysis bullosa simplex, PLEC-related, dog Any epidermolysis bullosa simplex that occurs in dogs due to a mutation in the PLEC gene. MONDO:1012779 epidermolysis bullosa simplex, KRT5-related, dog Any epidermolysis bullosa simplex that occurs in dogs due to a mutation in the KRT5 gene. MONDO:1012780 epidermolysis bullosa simplex, KRT5-related, cattle Any epidermolysis bullosa simplex that occurs in cattle due to a mutation in the KRT5 gene. MONDO:1012781 paroxysmal dyskinesia, PIGN-related, dog Any paroxysmal dyskinesia that occurs in dogs due to a mutation in the PIGN gene. +MONDO:1012786 ichthyosis, ASPRV1-related, dog Ichthyosis that occurs in dogs due to a mutation in the ASPRV1 gene. +MONDO:1012792 hypotrichosis, KRT71-related, cattle Congenital hypotrichosis that occurs in cattle due to a mutation in the KRT71 gene. MONDO:1012793 oculocutaneous albinism, HPS5-related, three-spined stickleback Oculocutaneous albinism that occurs in three-spined stickleback due to a mutation in the HPS5 gene. MONDO:1012794 oculocutaneous albinism, HPS5-related, domestic cat Oculocutaneous albinism that occurs in cats due to a mutation in the HPS5 gene. +MONDO:1012801 Leigh syndrome, SURF1-related, pig A mitochondrial disease characterized by central nervous system development delay that occurs in pigs due to a mutation in the SURF1 gene created by genetic engineering or gene editing. +MONDO:1012804 hereditary nonpolyposis colorectal cancer, MSH6-related, rhesus monkey Tumors at the ileocecal junction, cecum and proximal colon that occur in rhesus macaques due to a germline mutation in the MSH6 gene. MONDO:1012807 primary ciliary dyskinesia, NME5-related, dog Primary ciliary dyskinesia that occurs in dogs due to a mutation in the NME5 gene. MONDO:1012808 congenital eye malformation, SIX6-related, dog Any inherited eye defect that occurs in dogs due to a mutation in the SIX6 gene. +MONDO:1012809 hypertrophic cardiomyopathy, MYH7-related, domestic cat Hypertrophic cardiomyopathy that occurs in cats due to a mutation in the MYH7 gene. +MONDO:1012810 hypertrophic cardiomyopathy, MYH7-related, pig Hypertrophic cardiomyopathy that occurs in pigs due to a mutation in the MYH7 gene. +MONDO:1012811 hypertrophic cardiomyopathy, MYH7-related, rabbit Hypertrophic cardiomyopathy that occurs in rabbits due to a mutation in the MYH7 gene. +MONDO:1012812 leukodystrophy, TSEN54-related, dog Leukodystrophy that occurs in dogs due to a mutation in the TSEN54 gene. +MONDO:1012814 hypogonadotropic hypogonadism, TAC3-related, domestic cat Hypogonadism characterized by dysfunctional GnRH release leading to low blood testosterone and pituitary hormone levels and impaired testicular function that occurs in cats due to a mutation in the TAC3 gene. +MONDO:1012815 laryngeal paralysis, RAPGEF6-related, dog Laryngeal paralysis that occurs in dogs due to a mutation in the RAPGEF6 gene. +MONDO:1012816 lipid malabsorption, ACSL5-related, dog An inborn error of lipid metabolism characterized by stunted postnatal growth, steatorrhea, abdominal distension and wiry coat that occurs in dogs due to a mutation in the ACSL5 gene. +MONDO:1012818 hypotrichosis, HR-related, domestic cat Congenital hypotrichosis that occurs in cats due to a mutation in the HR gene. +MONDO:1012819 hypotrichosis, HR-related, pig Congenital hypotrichosis that occurs in pigs due to a mutation in the HR gene created by genetic engineering or gene editing. +MONDO:1012820 hypotrichosis, HR-related, sheep Congenital hypotrichosis that occurs in sheep due to a mutation in the HR gene. +MONDO:1012821 hypotrichosis, HEPHL1-related, cattle Congenital hypotrichosis that occurs in cattle due to a mutation in the HEPHL1 gene. +MONDO:1012822 congenital myopathy, SPTBN4-related, pig Any congenital myopathy that occurs in pigs due to a mutation in the SPTBN4 gene. +MONDO:1012825 ichthyosis, ABCA12-related, pig Ichthyosis that occurs in pigs due to a mutation in the ABCA12 gene. +MONDO:1012826 ichthyosis, ABCA12-related, cattle Ichthyosis that occurs in cattle due to a mutation in the ABCA12 gene. +MONDO:1012828 muscular dystrophy, ANO5-related, rabbit Any muscular dystrophy that occurs in rabbits due to a mutation in the ANO5 gene created by genetic engineering or gene editing. +MONDO:1012829 ichthyosis, DSP-related, cattle Ichthyosis that occurs in cattle due to a mutation in the DSP gene. MONDO:1012830 craniomandibular osteopathy, SLC37A2-related, dog Any craniomandibular osteopathy that occurs in dogs due to a mutation in the SLC37A2 gene. +MONDO:1012834 junctional epidermolysis bullosa, LAMB3-related, dog Junctional epidermolysis bullosa that occurs in dogs due to a mutation in the LAMB3 gene. MONDO:1012837 epidermolysis bullosa simplex, KRT14-related, domestic cat Any epidermolysis bullosa simplex that occurs in cats due to a mutation in the KRT14 gene. +MONDO:1012841 muscular dystrophy, TNNT1-related, sheep Any muscular dystrophy that occurs in sheep due to a mutation in the TNNT1 gene. +MONDO:1012846 laryngeal paralysis and polyneuropathy, CNTNAP1-related, dog Laryngeal paralysis with variable dysphagia, dysphonia, high-stepping and uncoordinated gait, exercise intolerance, stumbling and tripping, and limb muscle atrophy that occurs in dogs due to a mutation in the CNTNAP1 gene. MONDO:1012847 cerebral dysgenesis, PEA15 related, domestic cat Abnormal development of the telencephalon characterized by microcephaly and polymicrogyria that occurs in cats due to a mutation in the PEA15 gene. +MONDO:1012849 limb-girdle muscular dystrophy, SGCA-related, dog Any muscular dystrophy that occurs in dogs due to a mutation in the SGCA gene. MONDO:1012850 dilated cardiomyopathy, DMD-related, rabbit X-linked dilated cardiomyopathy that occurs in rabbits due to a mutation in the DMD gene created by genetic engineering or gene editing. MONDO:1012857 pituitary dwarfism, LHX3-related, dog Any pituitary dwarfism that occurs in dogs due to a mutation in the LHX3 gene. MONDO:1012858 pituitary dwarfism, POU1F1-related, dog Any pituitary dwarfism that occurs in dogs due to a mutation in the POU1F1 gene. +MONDO:1012859 hypertrophic cardiomyopathy, ALMS1-related, domestic cat Hypertrophic cardiomyopathy that occurs in cats due to a mutation in the ALMS1 gene. MONDO:1012862 paroxysmal dyskinesia, SOD1-related, dog Any paroxysmal dyskinesia that occurs in dogs due to a mutation in the SOD1 gene. MONDO:1012863 epilepsy, mitochondrial dysfunction and neurodegeneration, PITRM1-related, dog A neurodegenerative brain disorder with mitochondrial dysfunction, amyloid-β accumulation, and lethal epilepsy that occurs in dogs due to a mutation in the PITRM1 gene. MONDO:1012864 encephalopathy, ASPA-related, domestic cat A spongy encephalopathy that occurs in cats due to a mutation in the ASPA gene. MONDO:1012865 deafness, KLF7-related, dog Any hearing loss that occurs in dogs due to a mutation in the KLF7 gene. +MONDO:1012866 hypercholesterolemia, PCSK9-related, rabbit Hypercholesterolemia that occurs in rabbits due to a mutation in the PCSK9 gene created by genetic engineering or gene editing. +MONDO:1012868 long QT syndrome, KCNQ1-related, rabbit Any heart disorder characterized by pathologically prolonged ventricular action potential duration that occurs in rabbits due to a mutation in the KCNQ1 gene created by genetic engineering or gene editing. +MONDO:1012869 long QT syndrome, KCNH2-related, rabbit Any heart disorder characterized by pathologically prolonged ventricular action potential duration with sudden cardiac death due to polymorphic vetricular tachycardia that occurs in rabbits due to a mutation in the KCNH2 gene created by genetic engineering or gene editing. +MONDO:1012870 long QT syndrome, KCNE1-related, rabbit Any heart disorder characterized by pathologically prolonged ventricular action potential duration that occurs in rabbits due to a mutation in the KCNE1 gene created by genetic engineering or gene editing. MONDO:1012871 deafness, LOXHD1-related, dog Any hearing loss that occurs in dogs due to a mutation in the LOXHD1 gene. MONDO:1012872 primary ciliary dyskinesia, CCDC65-related, sheep Primary ciliary dyskinesia that occurs in sheep due to a mutation in the CCDC65 gene. Homozygous affected lambs suffer from respiratory defects predisposing infectious pneumonia with a fatal ending at a young age. MONDO:1012874 deafness, OSBPL2-related, pig Any hearing loss and hypercholesterolaemia that occurs in pigs due to a mutation in the OSBPL2 gene created by genetic engineering or gene editing. MONDO:1012877 dilated cardiomyopathy, RBM20-related, dog Any dilated cardiomyopathy that occurs in dogs due to a mutation in the RBM20 gene. +MONDO:1012879 ichthyosis, ABHD5-related, dog Ichthyosis that occurs in dogs due to a mutation in the ABHD5 gene. +MONDO:1012880 motor neuron disease, TMCO6-related, sheep Motor neuron disease that occurs in sheep due to a mutation in the TMCO6 gene. +MONDO:1012881 microcephaly, MFSD2A-related, sheep Microcephaly that occurs in sheep due to a mutation in the MFSD2A gene. MONDO:1012882 Charcot Marie Tooth disease, FGD4-related, cattle Charcot-Marie-Tooth disease that occurs in cattle due to a mutation in the FGD4 gene. MONDO:1012883 congenital disorder of glycosylation, GALNT2-related, cattle Any congenital disorder of glycosylation that occurs in cattle due to a mutation in the GALNT2 gene. MONDO:1012889 cleft lip, GADD45G-related, rabbit Cleft lip that occurs in rabbits due to a mutation in the GADD45G gene created by genetic engineering or gene editing. MONDO:1012891 deafness, OTOF-related, sheep Any hearing loss that occurs in sheep due to a mutation in the OTOF gene created by genetic engineering or gene editing. +MONDO:1012893 ichthyosis, KRT1-related, dog Ichthyosis that occurs in dogs due to a mutation in the KRT1 gene. MONDO:1012896 deafness, GJB2-related, pig Any hearing loss that occurs in pigs due to a mutation in the GJB2 gene created by genetic engineering or gene editing. +MONDO:1012899 hydrallantois, SLC12A1-related, cattle Hydrallantois that occurs in cattle due to a mutation in the SLC12A1 gene. +MONDO:1012901 ichthyosis, FA2H-related, cattle Ichthyosis that occurs in cattle due to a mutation in the FA2H gene. +MONDO:1012902 hair shaft dysplasia, DSG4-related, domestic cat A disorder characterized by bulbous swellings of the hair shafts and hypotrichosis that occurs in cats due to a mutation in the DSG4 gene. MONDO:1012904 fragile X syndrome, FMR1-related, white-tufted-ear marmoset Any hereditary neurological disease that occurs in white-tufted-ear marmoset due to a mutation in the FMR1 gene created by genetic engineering or gene editing. +MONDO:1012905 hypoparathyroidism, RAPGEF5-related, horse Hypoparathyroidism that occurs in horses due to a mutation in the RAPGEF5 gene. Affected foals present with hypocalcemia, tetany and seizures. MONDO:1012906 congenital muscular dystrophy, LAMA2-related, dog Any muscular dystrophy that occurs in dogs due to a mutation in the LAMA2 gene. +MONDO:1012907 muscular dystrophy-dystroglycanopathy, LARGE1-related, dog Any muscular dystrophy due to abnormal glycosylation of α-dystroglycan that occurs in dogs due to a mutation in the LARGE1 gene. MONDO:1012908 cryopyrin-associated periodic syndrome, NLRP3-related, pig Spontaneous systemic inflammation signs and increased delayed hypersensitivity response that occurs in pigs due to a mutation in the NLRP3 gene created by genetic engineering or gene editing. MONDO:1012909 dental-skeletal-retinal anomaly, MIA3-related, dog Brittle, discolored, translucent teeth, disproportionate growth and progressive retinal degeneration resulting in vision loss that occurs in dogs due to a mutation in the MIA3 gene. MONDO:1012925 encephalopathy, STXBP1-related, crab-eating macaque Focal epilepsy that occurs in crab-eating macaque due to a mutation in the STXBP1 gene created by genetic engineering or gene editing. @@ -86,8 +165,10 @@ MONDO:1012931 chondrodysplasia, EVC2-related, cattle Hereditary chondrodysplasia MONDO:1012932 chondrodysplasia, UGDH-related, domestic cat Hereditary chondrodysplasia that occurs in cats due to a mutation in the UGDH gene. MONDO:1012933 cleft primary palate, ESRP2-related, chicken Cleft palate that occurs in chickens due to a mutation in the ESRP2 gene. MONDO:1012934 deafness, EPS8L2-related, dog Any hearing loss that occurs in dogs due to a mutation in the EPS8L2 gene. +MONDO:1012937 Lewy body-like disease, CADPS2-related, yellow-crowned parrot A neurodegenerative disease characterized by severe ataxia, rigidity, and tremor with neuronal loss, spongiosis, and widespread Lewy body-like inclusions in many regions of the brain including the midbrain, basal ganglia, and neocortex that occurs in yellow-crowned parrot due to a mutation in the CADPS2 gene. MONDO:1012940 deafness, CDH23-related, dog Any hearing loss that occurs in dogs due to a mutation in the CDH23 gene. MONDO:1012941 cleft palate, MYH3-related, cattle Cleft palate that occurs in cattle due to a mutation in the MYH3 gene. +MONDO:1012942 lysosomal storage disease, CNP-related, dog Any lysosomal storage disease that occurs in dogs due to a mutation in the CNP gene. MONDO:1012943 dwarfism, ANKRD28-related, cattle Any dwarfism that occurs in cattle due to a mutation in the ANKRD28 gene. MONDO:1012964 Charcot-Marie-Tooth disease, non-human animal Charcot-Marie-Tooth disease that occurs in non-human animals. MONDO:1012966 congenital disorder of glycosylation, non-human animal Congenital disorder of glycosylation that occurs in non-human animals. @@ -98,6 +179,15 @@ MONDO:1012970 inherited auditory system disease, non-human animal Inherited audi MONDO:1012971 dwarfism, non-human animal Disturbances in growth processes leading to reduced height in non-human animals. MONDO:1012972 hereditary neurological disease, non-human animal Hereditary neurological disease that occurs in non-human animals. MONDO:1012973 skeletal dysplasia, non-human animal Skeletal dysplasia that occurs in non-human animals. +MONDO:1012974 hyperbilirubinemia, non-human animal Hyperbilirubinemia that occurs in non-human animals. +MONDO:1012975 hyperlipidemia, non-human animal Hyperlipidemia that occurs in non-human animals. +MONDO:1012976 hyperkeratosis, non-human animal Hyperkeratosis that occurs in non-human animals. +MONDO:1012977 congenital hypotrichosis, non-human animal Congenital hypotrichosis that occurs in non-human animals. +MONDO:1012978 ichthyosis, dog Ichthyosis that occurs in dogs. +MONDO:1012979 inborn errors of metabolism, non-human animal Inborn errors of metabolism that occur in non-human animals. +MONDO:1012980 mucolipidosis, non-human animal Mucolipidosis that occurs in non-human animals. +MONDO:1012981 anemia, non-human animal Anemia that occurs in non-human animals. +MONDO:1012982 heart disorder, non-human animal Heart disorder that occurs in non-human animals. MONDO:1030016 22q-related schwannomatosis A schwannomatosis that causes a predisposition to develop multiple schwannoma. It is diagnosed when an individual does not meet criteria for NF2-related schwannomatosis, SMARCB1-related schwannomatosis, or LTZR1-related schwannomatosis and both of the following molecular features exist: a loss of heterozygosity (LOH) of the same chromosome 22q markers in two anatomically distinct tumors or hybrid nerve sheath tumors and a different NF2 pathogenic variant in each tumor which cannot be detected in unaffected tissue. MONDO:1040001 TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations Any developmental defect during embryogenesis in which the cause of the disease is a mutation in the TP63 gene. This disease is characterized by variable ectodermal dysplasia, limb defects, and orofacial clefting. MONDO:1040003 KCND2-related neurodevelopmental disorder with or without seizures A neurodevelopmental disorder caused by variation in the KCND2 gene. This disorder is characterized by early-onset global developmental delay with impaired motor, speech and cognitive development. Patients often present muscle hypotonia, and less frequently, developmental epileptic encephalopathy, visual impairment and physical dysmorphisms.